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Genetic Variations of Chicken TYR Gene and Associations with Feather Color of Korean Native Chicken (KNC) (한국 토종닭 모색 변이와 TYR 유전자형 간의 상관관계 분석)

  • Choi, Jin Ae;Lee, Jun-Heon;Jang, Hyun-Jun;Lee, Kyung-Tai;Kim, Tae-Hun;Lee, Hyun-Jeong;Heo, Kang-Nyeong;Kim, Chong-Dae;Han, Jae-Yong;Park, Mi Na
    • Korean Journal of Poultry Science
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    • v.41 no.1
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    • pp.7-14
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    • 2014
  • Tyrosinase (TYR) gene is located on chromosome 1 in chicken and it is composed of five exons and four introns. TYR gene is described as a key enzyme in melanin biosynthesis. Most examples of complete albinism in chicken have been due to defects in the tyrosinase gene. The association of feather color and sequence polymorphism in the Tyrosinase (TYR) gene was investigated using Korean Native chicken H breed (H_PL), Korean Native chicken L/W breed(L/W_PL) and 'Woorimatdag' commercial chickens (Woorimatdag_CC). From L_PL and W_PL breed analyses, 4 synonymous SNPs (locus G33A, G116A, C217T and C247T) and 2 SNPs (G838A and G958A) were detected in 4th exon and 4th intron of TYR gene respectively. The genotype frequencies for 6 SNPs were compared between L_PL and W_PL and W_PL represented homozygous SNP types in all the analyzed SNP positions while L_PL displayed various SNP types.

Establishment of an Ice Core Processing Method and Analytical Procedures for Fundamental Proxies (빙하코어의 전처리 방법 및 기초 프록시 분석법 확립)

  • Jun, Seong Joon;Hong, Sang Bum;Hur, Soon Do;Lee, Jeonghoon;Kang, Jung-Ho;Hwang, Hee Jin;Chung, Ji Woong;Jung, Hye Jin;Han, Changhee;Hong, Sungmin
    • Ocean and Polar Research
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    • v.36 no.1
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    • pp.13-24
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    • 2014
  • We established the first complete ice core processing method and analytical procedures for fundamental proxies, using a 40.2 m long ice core drilled on the Mt. Tsambagarav glacier in the Mongolian Altai mountains in July 2008. The whole core was first divided into two sub ice core sections and the measurements of the visual stratigraphy and electrical conductivity were performed on the surface of these sub core sections. A continuous sequence of samples was then prepared for chemical analyses (stable isotope ratios of oxygen ($^{18}O/^{16}O$) and hydrogen ($^2H/^1H$), soluble ions and trace elements). A total of 29 insoluble dust layers were identified from the measurement of visual stratigraphy. The electrical conductivity measurement (ECM) shows 11 peaks with the current more than 0.8 ${\mu}A$ Comparing the profiles of $SO_4{^{2-}}$ and $Cl^-$ concentrations to correlate with known volcanic eruptions, the first two ECM peaks appear to be linked to the eruptions (January and June 2007) of Kliuchevskoi volcano on the Kamchatka Peninsula of Russia, which supports the reliability of our ECM data. Finally, the composition of stable isotopes (${\delta}^{18}O$ and ${\delta}D$) shows a well-defined seasonal variation, suggesting that various chemical proxies may have been well preserved in the successive ice layers of Tsambagarav ice core. Our ice core processing method and analytical procedures for fundamental proxies are expected to be used for paleoclimate and paleoenvironmental studies from polar and alpine ice cores.

The Functional and Genetic Defects of IFN-${\gamma}$ Receptor in the Patients with Tuberculosis (결핵환자에서 IFN-${\gamma}$ 수용체의 기능적 및 유전적 이상에 관한 연구)

  • Park, Gye-Young;Hwang, You-Jin;Lim, Young-Hee;An, Chang-Hyeok;Park, Jeong-Woong;Jeong, Seong-Hwan
    • Tuberculosis and Respiratory Diseases
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    • v.52 no.5
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    • pp.497-505
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    • 2002
  • Background : INF-${\gamma}$ plays an important role in the host response to a mycobacterial infection. A complete IFN-${\gamma}$ receptor 1 deficiency is a life threatening condition because it renders patients highly susceptible to a mycobacterial infection. Several mutations in the IFN-${\gamma}$ receptor and STAT1 gene have been identified in the rare mycobacterial infections. These mutations have partial function of the IFN-${\gamma}$ receptor and similar pathologic features to clinical tuberculosis. Materials and Methods : The function of the IFN-${\gamma}$ receptor was evaluated in the patients with clinical tuberculosis. In addition, the DNA coding sequence of the IFNgR1 and STAT1 gene was also analyzed in disseminated tuberculosis patients who might have a defective IFN-${\gamma}$ receptor. Results : The cell surface expression levels of HLA-DR and CD64 in the PMBC after being stimulation with IFN-${\gamma}$ (100IU/ml, 1000IU/ml) were increased in both controls and patients. However, the rate of increase in both groups was similar. The production of TNF-${\alpha}$ in the response to stimulation with LPS was higher in the both groups ($850.7{\pm}687.8$ vs. $836.7{\pm}564.3$ pg/ml). Pretreatment with IFN-${\gamma}$ prior to LPS stimulation resulted in further increase in TNF-${\alpha}$ production between both groups ($2203.5{\pm}242.5$ vs. $2227.5{\pm}560.4$ pg/ml). However, the rate of the increase in TNF-${\alpha}$ production in the both groups was similar. The known mutations in the IFNgR1 and STAT1 coding sequences were not found in the genomic DNA of patients with disseminated tuberculosis. Conclusion : The functional and genetic defects of the IFN-${\gamma}$ receptor were not identified in clinical tuberculosis. This suggests the defective IFN-${\gamma}$ receptor that predispoe patients to a BCG or NTM infection can not alone account for the cases of clinical tuberculosis.

Intracullular Functions of the mas2+ Gene in the Fission Yeast, Schizosaccharomyces pombe (분열형 효모에서의 mas2+ 유전자의 세포 내 기능)

  • Sin, Sang-Min;Cha, Jae-Young;Ha, Se-Eun;Sim, Sun-Mi;Kim, Hyoung-Do;Lee, Jung-Sup;Park, Jong-Kun
    • Journal of Life Science
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    • v.19 no.1
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    • pp.101-110
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    • 2009
  • The regulation of gene expression plays an important role in cell cycle controls. In this study, a novel $mas2^+$ (mitosis associated protein) gene, a homolog of human SMARCAD1 was isolated and characterized from a fission yeast Schizosaccharomyces pombe (S. pombe) using gene-specific polymerase chain reaction. The isolated gene contained a complete open reading frame capable of encoding 922 amino acid residues with a typical promoter, as judged by nucleotide sequence analysis. It was also found that an SNF2 domain is located, which is involved in the chromosome remodeling. The quantitative analysis of the $mas2^+$ transcript against $adh1^+$ showed that the expression level of $mas2^+$ is high before septum formation in S. pombe. When $mas2^+$ null mutant cells were grown at 27 and $35^{\circ}C$, the cytokinesis of $mas2^+$ null mutant was greatly delayed and a large number of multi-septate and mis-segregated cells were produced. In addition, the number of multi-septate cells significantly increased. When cells were cultured in YES rich medium to increase proliferation, the abnormal phenotypes $mas2^+$ null mutant dramatically increased. These phenotypes could be rescued by an over-expression of the mast gene. The Mas2 protein localized in the nuclei of S. pombe, as evidenced by Mas2-EGFP signals. These results suggest that the $mas2^+$ is homologous to human SMARCAD1 gene and involved in septum formation and chromosome remodeling control.

A Possible Relation of the Helicobacter pylori pfr Gene to Iron Deficiency Anemia? (Helicobacter pylori 연관 철분 결핍성 빈혈과 H. pylori pfr 유전자 다형성과의 관련성)

  • Lee, Ji-Eun;Choe, Yon-Ho;Hwang, Tae-Sook
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.4 no.1
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    • pp.28-33
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    • 2001
  • Purpose: H. pylori infection is thought to contribute to iron-deficiency anemia, especially during puberty. The ferritin protein Pfr of H. pylori is homologous to eukaryotic and prokaryotic ferritins. The purpose of this study was to analyze the H. pylori pfr status in gastric biopsy specimens according to clinical data, including antral gastritis with or without iron-deficiency anemia. Methods: A total of 26 H. pylori-positive patients aged from ten to 18 years were categorized into subgroups based on the presence or absence of iron-deficiency anemia. All of them had antral gastritis. Sixteen patients were proved to have iron-deficiency anemia by hematological study, two of which had a duodenal ulcer. The other ten patients showed normal hematological findings. DNA isolation was performed from each of the gastric biopsy specimens. PCR amplification of the pfr gene coding was done using two sets of primers. The pfr region, 501 bp, was generated by linking the sequences of the two PCR products. The nucleotide and protein sequences were compared between the pfr regions from Korean H. pylori strains and the NCTC 11638, 26695, and J99 strain, which were obtained from the Genbank. Sequence comparisons were also performed for the pfr regions between the iron-deficiency anemia (+) and (-) groups. Results: Analysis of the complete coding region of pfr gene revealed three sites of mutation. The Ser39Ala mutation was found in 100% (26/26), Gly111Asn in 26.9% (7/26), and Gly82Ser in 11.5% (3/26). There were no significant differences in the mutations of the pfr regions between the iron deficiency anemia (+) and (-) groups. Conclusion: The mutation in the pfr gene did not relate with the clinical phenotype, iron deficiency anemia. Further studies are needed on the aspects of host side or other complex factors to elucidate anemia. Further studies are needed on the aspects of host side or other complex factors to elucidate the mechanisms by which the H. pylori infection might lead to iron deficiency anemia.

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Loss of Specific Sequences in a Natural Variant of Potato Proteinase Inhibitor II Gene Results in a Loss of Wound-Inducible Gene Expression (감자의 단백질 분해효소 억제제 II 유전자의 특별한 염기서열의 자연적 제거로 인한 상처 유발성 발현의 소실)

  • Thornburg, Robert W.;Park, Sang-Gyu
    • Applied Biological Chemistry
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    • v.39 no.2
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    • pp.104-111
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    • 1996
  • We have isolated several proteinase inhibitor II genes pin2 from a Russet Burbank potato DNA library. One of these, pin2T was subcloned and a 1.8 kb Xbal/Nsil insert was sequenced. This fragment contained the complete Inhibitor II gene including 965 Up of flanking DNA upstream from the gene and 200 bp of flanking DNA downstream from the gene. The open reading frame encodes a protein that is similar to other reported proteinase Inhibitor II proteins. The DNA sequence of the 5' flanking region of pin2T from -714 to +1 is highly homologous (91% identity) with that of the previously isolated wound-inducible pin2K. There are, however, four small deletions in the pin2T promoter which are located at -221 to -200, -263 to -254, -523 to -426 and -759 to -708 relative to the transcription start site of the wound-inducible pin2K. Three of these deletions map to a portion of the promoter that controls the wound-inducibility of the proteinase inhibitor genes. Chimeric genes containing the promoter of the pin2T gene linked with the both CAT and GUS were constructed and transfered into tobacco plants. Analysis of these plants indicated that pin2T is not a wound-inducible gene but is expressed at low levels. Thus, wound-inducibility is lost with the concomitant natural deletion of three small regions of the promoter. Comparision of the sequences deleted in pin2T relative to the pin2K with Genebank sequences indicates that the deleted sequences contain a motif (consensus 5'-AGTAAA-3') that is found in many other wound-inducible genes but not easily found in the published promoter sequences of other plant genes. Nuclear proteins from unwounded and wounded potato leaves were bound to the proximal promoter region, downstream of the 5'-AGTAAA-3', of pin2T. The comparison of the pin2T gone with the pin2K gene indicates that the natural internal promoter deletions are likely responsible for loss of the wound-inducible phenotype in the pin2T gene.

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Isolation and Characterization of mas1+ of Schizosaccharomyces pombe, a Homologue of Human CIP29/Hcc-1 Involved in the Regulation of Cell Division (세포분열에 관여하는 인간의 CIP29/Hcc1 유전자와 상동성을 가지는 분열형 효모의 새로운 유전자 mas1+의 특성분석)

  • Cha, Jae-Young;Shin, Sang-Min;Ha, Se-Eun;Lee, Jung-Sup;Park, Jong-Kun
    • Journal of Life Science
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    • v.21 no.12
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    • pp.1666-1677
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    • 2011
  • The regulation of gene expression plays an important role in cell cycle controls. In this study, a novel gene, the $mas1^+$($\underline{mi}$tosis $\underline{as}$sociated protein) gene, a homolog of human CIP29/Hcc1, was isolated and characterized from fission yeast Schizosaccharomyces pombe (S. pombe) using a gene-specific polymerase chain reaction. The isolated gene contained a complete open reading frame capable of encoding 245 amino acid residues with a typical promoter, as judged by nucleotide sequence analysis. It was also found that a PCB ($\underline{p}$ombe cell $\underline{c}$ycle $\underline{b}$ox) is located in the promoter region, which controls M-$G_1$ specific transcription in S. pombe. The quantitative analysis of the $mas1^+$ transcript against $adh1^+$ showed that the pattern of expression is similar to that of the septation index. Cytokinesis of mas1 mutant was greatly delayed at $25^{\circ}C$ and $36^{\circ}C$, and a large number of multi-septate cells were produced. The mas1 mutant had 2C, 4C and 6C DNA contents, as determined by FACS analysis. In addition, the number of multi-septate cells significantly increased. When cells were cultured in nitrogen starvation medium to increase proliferation, the abnormal phenotypes of mas1 mutant dramatically increased. These phenotypes could be rescued by an overexpression of the $mas1^+$ gene. The mas1 protein localized in the nuclei of S. pombe and human HeLa cells, as evidenced by Mas1-EGFP signals. The abnormal growth pattern and the morphology of mas1 mutant were complemented by a plasmid carrying human CIP29/Hcc-1cDNA. In addition, CIP29 /Hcc-1 transcript level increased in active cell proliferation stages in the developing mouse embryos. These results indicate that the $mas1^+$ ishomologous to the human CIP29/Hcc1 gene and is involved in cytokinesis and cell shape control.

Somatic Cell Analysis and Cobalamin Responsiveness Study in Ten Korean Patients with Methylmalonic Aciduria (한국 메틸말로닌산혈증 환아 10례에서 Somatic Cell 분석과 cobalamin 반응성 연구)

  • Lim, Han Hyuk;Song, Wung Joo;Kim, Gu-Hwan;Watkins, David;Rosenblatt, David S.;Kim, Yoo-Mi;Chang, Mea Young;Kil, Hong Ryang;Kim, Sook Za
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.19 no.1
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    • pp.12-19
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    • 2019
  • Purpose: Isolated methylmalonic acidemia (MMA) is an autosomal recessive inherited disorder of propionate metabolism. There are two subtypes of MMUT gene defects. $Mut^0$ represents complete loss of methylmalonyl-CoA mutase (MCM) activity while mut- is associated with residual MCM activity, which can be stimulated by hydroxocobalamin (OHCbl) supplementation. The objective of this study is to investigate cobalamin responsiveness and mutations present in Korean MMA population. Methods: We evaluated 10 MMA patients using somatic cell complementation analysis on their fibroblasts to measure MCM activity and vitamin B12 responsiveness for the optimal treatment. MMUT gene was sequenced to identify the MMA mutations. Results: For all patients, the incorporation of $[^{14}C]-propionate$ was low, and there was no response to OHCbl. The incorporation of $[^{14}C]-methyltetrahydrofolate$ and $[^{57}Co]-CNCbl$ fell within the normal range. There was adequate synthesis of methylcobalamin while the synthesis of adenosylcobalamin was low. The complementation analysis showed all patients were $mut^0$. The sequence analysis identified 12 different MMUT mutations, including 2 novel mutations, p.Gln267Ter and p.Ile697Phe, were identified. All the patients in this study had neonatal onset of symptoms, belonged to $mut^0$ complementation class, and as a result, showed no cobalamin responsiveness. Conclusion: No Korean MMA patient showed cobalamin responsiveness.

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The Method and Meaning of the Archiving Project of Suicide Survivors (자살유족 기록작업의 방법과 의미)

  • Lee, Young-nam
    • The Korean Journal of Archival Studies
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    • no.59
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    • pp.207-275
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    • 2019
  • This archiving project of the survivors of suicide was done with the survivor supporting team of the Seoul Suicide Prevention Center. The survivor supporting team was operating a Self-help Support Group for the emotional support of the survivors of suicide. A Self-help Support Group is a place for the survivors of suicide to regularly meet and share their suffering by talking of topics hard to discuss elsewhere. As the Self-help Support Group progressed members who acted as the leader of the group appeared. They formed an essay group that writes together. Two fathers who lost their sons, two mothers who lost their daughters, a mother who lost her son, a wife who lost his husband. The essay group met each week in a place facing Sajik Park. Through the windows that took up the whole side of the room, evening was coming in. The things that happened during the day went away towards Inwang mountain following the setting sun. Ten people (six members of the essay group, three from the survivor support team, a historian for unique conversation) sat around a table, facing each other. "Now, what shall we do?" History for unique conversation is a time that archives life by sharing conversations. At times a complete stranger, and other times people who share their ordinary lives sit around together (3-9 people, sometimes about 15). On the table there is coffee, bread, fruits and salads, and sometimes a dish someone heartily prepared. When a bottle of wine is placed on the table, each takes a glass. Morning, afternoon, the time the evening is welcomed in, late night. It does not matter which. For six months, 3 hours when meeting every week, 6 hours when at every other week. A room where the ambience is like that of a kitchen where sunlight enters, or a cozy living room is the best location. However, there are many times when it is held in a multipurpose room in the suburbs where many meetings are held, or in a classroom of a school. The meeting place is decided according to different situations of the time. There are no participation requirements as it is said to be for themselves to write down according to archiving form while looking back their lives thoroughly, and they are the only ones to stop themselves. The archives landscape from far away would seem like trying to do some talking. However, when going into a microscopic situation one must leave themselves to the emotional dynamics. It is because it archives the frustration and failures one experienced through life. A participator of history for unique conversation must face the sufferings of their life. The archiving project took place in 2013 to 2014. Many years have passed. Has the objective distance for archiving the situation of that time been secured? That may be uncertain, but I will speak of a few stray thoughts on archiving while depicting the process and method of operation.

Interpreting Bounded Rationality in Business and Industrial Marketing Contexts: Executive Training Case Studies (집행관배훈안례연구(阐述工商业背景下的有限合理性):집행관배훈안례연구(执行官培训案例研究))

  • Woodside, Arch G.;Lai, Wen-Hsiang;Kim, Kyung-Hoon;Jung, Deuk-Keyo
    • Journal of Global Scholars of Marketing Science
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    • v.19 no.3
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    • pp.49-61
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    • 2009
  • This article provides training exercises for executives into interpreting subroutine maps of executives' thinking in processing business and industrial marketing problems and opportunities. This study builds on premises that Schank proposes about learning and teaching including (1) learning occurs by experiencing and the best instruction offers learners opportunities to distill their knowledge and skills from interactive stories in the form of goal.based scenarios, team projects, and understanding stories from experts. Also, (2) telling does not lead to learning because learning requires action-training environments should emphasize active engagement with stories, cases, and projects. Each training case study includes executive exposure to decision system analysis (DSA). The training case requires the executive to write a "Briefing Report" of a DSA map. Instructions to the executive trainee in writing the briefing report include coverage in the briefing report of (1) details of the essence of the DSA map and (2) a statement of warnings and opportunities that the executive map reader interprets within the DSA map. The length maximum for a briefing report is 500 words-an arbitrary rule that works well in executive training programs. Following this introduction, section two of the article briefly summarizes relevant literature on how humans think within contexts in response to problems and opportunities. Section three illustrates the creation and interpreting of DSA maps using a training exercise in pricing a chemical product to different OEM (original equipment manufacturer) customers. Section four presents a training exercise in pricing decisions by a petroleum manufacturing firm. Section five presents a training exercise in marketing strategies by an office furniture distributer along with buying strategies by business customers. Each of the three training exercises is based on research into information processing and decision making of executives operating in marketing contexts. Section six concludes the article with suggestions for use of this training case and for developing additional training cases for honing executives' decision-making skills. Todd and Gigerenzer propose that humans use simple heuristics because they enable adaptive behavior by exploiting the structure of information in natural decision environments. "Simplicity is a virtue, rather than a curse". Bounded rationality theorists emphasize the centrality of Simon's proposition, "Human rational behavior is shaped by a scissors whose blades are the structure of the task environments and the computational capabilities of the actor". Gigerenzer's view is relevant to Simon's environmental blade and to the environmental structures in the three cases in this article, "The term environment, here, does not refer to a description of the total physical and biological environment, but only to that part important to an organism, given its needs and goals." The present article directs attention to research that combines reports on the structure of task environments with the use of adaptive toolbox heuristics of actors. The DSA mapping approach here concerns the match between strategy and an environment-the development and understanding of ecological rationality theory. Aspiration adaptation theory is central to this approach. Aspiration adaptation theory models decision making as a multi-goal problem without aggregation of the goals into a complete preference order over all decision alternatives. The three case studies in this article permit the learner to apply propositions in aspiration level rules in reaching a decision. Aspiration adaptation takes the form of a sequence of adjustment steps. An adjustment step shifts the current aspiration level to a neighboring point on an aspiration grid by a change in only one goal variable. An upward adjustment step is an increase and a downward adjustment step is a decrease of a goal variable. Creating and using aspiration adaptation levels is integral to bounded rationality theory. The present article increases understanding and expertise of both aspiration adaptation and bounded rationality theories by providing learner experiences and practice in using propositions in both theories. Practice in ranking CTSs and writing TOP gists from DSA maps serves to clarify and deepen Selten's view, "Clearly, aspiration adaptation must enter the picture as an integrated part of the search for a solution." The body of "direct research" by Mintzberg, Gladwin's ethnographic decision tree modeling, and Huff's work on mapping strategic thought are suggestions on where to look for research that considers both the structure of the environment and the computational capabilities of the actors making decisions in these environments. Such research on bounded rationality permits both further development of theory in how and why decisions are made in real life and the development of learning exercises in the use of heuristics occurring in natural environments. The exercises in the present article encourage learning skills and principles of using fast and frugal heuristics in contexts of their intended use. The exercises respond to Schank's wisdom, "In a deep sense, education isn't about knowledge or getting students to know what has happened. It is about getting them to feel what has happened. This is not easy to do. Education, as it is in schools today, is emotionless. This is a huge problem." The three cases and accompanying set of exercise questions adhere to Schank's view, "Processes are best taught by actually engaging in them, which can often mean, for mental processing, active discussion."

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